Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm

Orit Reish, Susan A. Berry, Gordon Dewald, Richard A. King*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a patient with duplication of 7p15→pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15→pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical region for the dup(7p) phenotype is restricted to 7p15→pter. The complete clinical phenotype of dup(7)(p15→pter) includes mental retardation, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects. Recognition of the clinical spectrum in patients with a smaller duplication of 7p, and the assignment of this critical region, should prove valuable for accurate counseling, prediction of outcome, and further gene mapping.

Original languageEnglish
Pages (from-to)21-25
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume61
Issue number1
DOIs
StatePublished - 2 Jan 1996
Externally publishedYes

Keywords

  • critical region
  • deletion 20q
  • duplication 7p
  • phenotype

Fingerprint

Dive into the research topics of 'Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm'. Together they form a unique fingerprint.

Cite this